Canonical Allele Identifier: CA16029965

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112175224T>G (hg19) ; chr5:g.112839527T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839527T>G , CM000667.2:g.112839527T>G	GRCh38
NC_000005.9:g.112175224T>G , CM000667.1:g.112175224T>G	GRCh37
NC_000005.8:g.112203123T>G	NCBI36
NG_008481.4:g.152007T>G , LRG_130:g.152007T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3598T>G	ENSP00000484935.2:n.3598T>G
ENST00000504915.3:c.3987T>G	ENSP00000473355.2:p.Ile1329Met
ENST00000505350.2:c.*3939T>G	ENSP00000481752.1:n.*3939T>G
ENST00000507379.6:c.3879T>G	ENSP00000423224.2:p.Ile1293Met
ENST00000509732.6:c.3933T>G	ENSP00000426541.2:p.Ile1311Met
ENST00000512211.7:c.3933T>G	ENSP00000423828.3:p.Ile1311Met
ENST00000257430.9:c.3933T>G MANE Select	ENSP00000257430.4:p.Ile1311Met
ENST00000257430.8:c.3933T>G	ENSP00000257430.4:p.Ile1311Met
ENST00000502371.2:c.2286T>G
ENST00000508376.6:c.3933T>G	ENSP00000427089.2:p.Ile1311Met
ENST00000508624.5:c.*3255T>G	ENSP00000424265.1:n.*3255T>G
ENST00000520401.1:c.230+10555T>G
NM_000038.5:c.3933T>G	NP_000029.2:p.Ile1311Met
NM_001127510.2:c.3933T>G	NP_001120982.1:p.Ile1311Met
NM_001127511.2:c.3879T>G	NP_001120983.2:p.Ile1293Met
NM_001354895.1:c.3933T>G	NP_001341824.1:p.Ile1311Met
NM_001354896.1:c.3987T>G	NP_001341825.1:p.Ile1329Met
NM_001354897.1:c.3963T>G	NP_001341826.1:p.Ile1321Met
NM_001354898.1:c.3858T>G	NP_001341827.1:p.Ile1286Met
NM_001354899.1:c.3849T>G	NP_001341828.1:p.Ile1283Met
NM_001354900.1:c.3810T>G	NP_001341829.1:p.Ile1270Met
NM_001354901.1:c.3756T>G	NP_001341830.1:p.Ile1252Met
NM_001354902.1:c.3660T>G	NP_001341831.1:p.Ile1220Met
NM_001354903.1:c.3630T>G	NP_001341832.1:p.Ile1210Met
NM_001354904.1:c.3555T>G	NP_001341833.1:p.Ile1185Met
NM_001354905.1:c.3453T>G	NP_001341834.1:p.Ile1151Met
NM_001354906.1:c.3084T>G	NP_001341835.1:p.Ile1028Met
NM_000038.6:c.3933T>G MANE Select	NP_000029.2:p.Ile1311Met
NM_001127510.3:c.3933T>G	NP_001120982.1:p.Ile1311Met
NM_001127511.3:c.3879T>G	NP_001120983.2:p.Ile1293Met
NM_001354895.2:c.3933T>G	NP_001341824.1:p.Ile1311Met
NM_001354896.2:c.3987T>G	NP_001341825.1:p.Ile1329Met
NM_001354897.2:c.3963T>G	NP_001341826.1:p.Ile1321Met
NM_001354898.2:c.3858T>G	NP_001341827.1:p.Ile1286Met
NM_001354899.2:c.3849T>G	NP_001341828.1:p.Ile1283Met
NM_001354900.2:c.3810T>G	NP_001341829.1:p.Ile1270Met
NM_001354901.2:c.3756T>G	NP_001341830.1:p.Ile1252Met
NM_001354902.2:c.3660T>G	NP_001341831.1:p.Ile1220Met
NM_001354903.2:c.3630T>G	NP_001341832.1:p.Ile1210Met
NM_001354904.2:c.3555T>G	NP_001341833.1:p.Ile1185Met
NM_001354905.2:c.3453T>G	NP_001341834.1:p.Ile1151Met
NM_001354906.2:c.3084T>G	NP_001341835.1:p.Ile1028Met